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Items: 2

Variation
Gene
(Protein Change)
Type
(Consequence)
ConditionClassification, Review status
LOC126863212, OFD1
(D17G)
Single nucleotide variant
(missense variant +1 more)
OFD1-related ciliopathy
GUncertain significance
OFD1
(A602T +2 more)
Single nucleotide variant
(missense variant)
OFD1-related ciliopathy
+1 more
GUncertain significance